Perroni L - Search Results

1

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.

Grasso M, Faravelli F, Lo Nigro C, Chiurazzi P, Sperandeo MP, Argusti A, Pomponi MG, Lecora M, Sebastio GF, Perroni L, Andria G, Neri G, Bricarelli FD. Grasso M, et al. Among authors: perroni l. Am J Med Genet. 1999 Jul 30;85(3):311-6. doi: 10.1002/(sici)1096-8628(19990730)85:3<311::aid-ajmg24>3.0.co;2-a. Am J Med Genet. 1999. PMID: 10398249

2

Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: a study of 87 families.

Perroni L, Grasso M, Argusti A, Lo Nigro C, Croci GF, Zelante L, Garani GP, Dagna Bricarelli F. Perroni L, et al. Am J Med Genet. 1996 Jul 12;64(1):176-80. doi: 10.1002/(SICI)1096-8628(19960712)64:1<176::AID-AJMG30>3.0.CO;2-I. Am J Med Genet. 1996. PMID: 8826470

3

Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome.

Grasso M, Perroni L, Colella S, Piombo G, Argusti A, Lituania M, Buscaglia M, Giussani U, Grimoldi MG, Bricarelli FD. Grasso M, et al. Among authors: perroni l. Am J Med Genet. 1996 Jul 12;64(1):187-90. doi: 10.1002/(SICI)1096-8628(19960712)64:1<187::AID-AJMG33>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8826473

4

Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity.

Chiurazzi P, Genuardi M, Kozak L, Giovannucci-Uzielli ML, Bussani C, Dagna-Bricarelli F, Grasso M, Perroni L, Sebastio G, Sperandeo MP, Oostra BA, Neri G. Chiurazzi P, et al. Among authors: perroni l. Am J Med Genet. 1996 Jul 12;64(1):209-15. doi: 10.1002/(SICI)1096-8628(19960712)64:1<209::AID-AJMG38>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8826478

5

Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe.

Grasso M, Perroni L, Dagna-Bricarelli F, Rinaldi A, Robledo R, Siniscalco M, Filippi G. Grasso M, et al. Among authors: perroni l. Am J Med Genet. 1996 Aug 9;64(2):283-6. doi: 10.1002/(SICI)1096-8628(19960809)64:2<283::AID-AJMG10>3.0.CO;2-B. Am J Med Genet. 1996. PMID: 8844066

6

FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother.

Lo Nigro C, Faravelli F, Cavani S, Perroni L, Novello P, Vitali M, Bricarelli FD, Grasso M. Lo Nigro C, et al. Among authors: perroni l. Eur J Hum Genet. 2000 Mar;8(3):157-62. doi: 10.1038/sj.ejhg.5200425. Eur J Hum Genet. 2000. PMID: 10780779

7

Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.

Cecconi M, Forzano F, Garavelli L, Pantaleoni C, Grasso M, Dagna Bricarelli F, Perroni L, Di Maria E, Faravelli F. Cecconi M, et al. Among authors: perroni l. Am J Med Genet A. 2008 Dec 1;146A(23):3095-9. doi: 10.1002/ajmg.a.32568. Am J Med Genet A. 2008. PMID: 19006215 No abstract available.

8

The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.

Grasso M, Cecconi M, Boni S, Forzano F, Barbaresi M, Memo L, Perroni L, Faravelli F, Di Maria E. Grasso M, et al. Among authors: perroni l. Mol Cell Probes. 2010 Apr;24(2):107-9. doi: 10.1016/j.mcp.2009.10.006. Epub 2009 Oct 21. Mol Cell Probes. 2010. PMID: 19836446

9

Origin of extra chromosome 21 in 343 families: cytogenetic and molecular approaches.

Dagna Bricarelli F, Pierluigi M, Grasso M, Strigini P, Perroni L. Dagna Bricarelli F, et al. Among authors: perroni l. Am J Med Genet Suppl. 1990;7:129-32. doi: 10.1002/ajmg.1320370726. Am J Med Genet Suppl. 1990. PMID: 1981472

10

Crossing over and chromosome 21 nondisjunction: a study of 60 families.

Perroni L, Dagna Bricarelli F, Grasso M, Pierluigi M, Baldi M, Pedemonte C, Strigini P. Perroni L, et al. Am J Med Genet Suppl. 1990;7:141-7. doi: 10.1002/ajmg.1320370729. Am J Med Genet Suppl. 1990. PMID: 1981474

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